Incidental Mutation 'R7501:Rfx7'
| ID |
581485 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rfx7
|
| Ensembl Gene |
ENSMUSG00000037674 |
| Gene Name |
regulatory factor X, 7 |
| Synonyms |
2510005N23Rik, D130086K05Rik, 9930116O05Rik, Rfxdc2 |
| MMRRC Submission |
045574-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.901)
|
| Stock # |
R7501 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
72439522-72530219 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 72524054 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 415
(V415I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127192
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093820]
[ENSMUST00000163401]
[ENSMUST00000183372]
[ENSMUST00000184015]
|
| AlphaFold |
F8VPJ6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093820
AA Change: V415I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000091338
Gene: ENSMUSG00000037674
AA Change: V415I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
|
PDB:2KW3|B
|
41 |
95 |
4e-11 |
PDB |
|
Pfam:RFX_DNA_binding
|
101 |
185 |
3.1e-39 |
PFAM |
|
low complexity region
|
260 |
270 |
N/A |
INTRINSIC |
|
low complexity region
|
304 |
321 |
N/A |
INTRINSIC |
|
low complexity region
|
356 |
370 |
N/A |
INTRINSIC |
|
low complexity region
|
521 |
534 |
N/A |
INTRINSIC |
|
low complexity region
|
947 |
965 |
N/A |
INTRINSIC |
|
low complexity region
|
1010 |
1018 |
N/A |
INTRINSIC |
|
low complexity region
|
1066 |
1081 |
N/A |
INTRINSIC |
|
low complexity region
|
1252 |
1263 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163401
AA Change: V415I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000127192
Gene: ENSMUSG00000037674
AA Change: V415I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
|
PDB:2KW3|B
|
41 |
95 |
4e-11 |
PDB |
|
Pfam:RFX_DNA_binding
|
105 |
183 |
2.9e-33 |
PFAM |
|
low complexity region
|
260 |
270 |
N/A |
INTRINSIC |
|
low complexity region
|
304 |
321 |
N/A |
INTRINSIC |
|
low complexity region
|
356 |
370 |
N/A |
INTRINSIC |
|
low complexity region
|
521 |
534 |
N/A |
INTRINSIC |
|
low complexity region
|
947 |
965 |
N/A |
INTRINSIC |
|
low complexity region
|
1010 |
1018 |
N/A |
INTRINSIC |
|
low complexity region
|
1066 |
1081 |
N/A |
INTRINSIC |
|
low complexity region
|
1252 |
1263 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183372
|
| SMART Domains |
Protein: ENSMUSP00000139195
Gene: ENSMUSG00000037674
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
|
PDB:2KW3|B
|
41 |
95 |
4e-12 |
PDB |
|
Pfam:RFX_DNA_binding
|
101 |
185 |
9e-40 |
PFAM |
|
Pfam:Pox_D5
|
109 |
196 |
1.8e-8 |
PFAM |
|
low complexity region
|
259 |
272 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184015
|
| SMART Domains |
Protein: ENSMUSP00000138957
Gene: ENSMUSG00000037674
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
|
PDB:2KW3|B
|
41 |
95 |
4e-12 |
PDB |
|
Pfam:RFX_DNA_binding
|
101 |
185 |
9e-40 |
PFAM |
|
Pfam:Pox_D5
|
109 |
196 |
1.8e-8 |
PFAM |
|
low complexity region
|
259 |
272 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (61/61) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RFX7 is a member of the regulatory factor X (RFX) family of transcription factors (see RFX1, MIM 600006) (Aftab et al., 2008 [PubMed 18673564]).[supplied by OMIM, Mar 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad9 |
A |
G |
3: 36,142,974 (GRCm39) |
N503S |
probably benign |
Het |
| Adam1a |
C |
T |
5: 121,657,011 (GRCm39) |
A761T |
possibly damaging |
Het |
| Amn1 |
C |
T |
6: 149,086,529 (GRCm39) |
M44I |
probably benign |
Het |
| Ankrd44 |
T |
C |
1: 54,688,522 (GRCm39) |
E238G |
|
Het |
| Ap3b2 |
A |
T |
7: 81,123,194 (GRCm39) |
I440K |
probably damaging |
Het |
| Atp2a1 |
G |
A |
7: 126,049,344 (GRCm39) |
T566I |
probably benign |
Het |
| B3galnt1 |
T |
C |
3: 69,482,632 (GRCm39) |
I210V |
probably benign |
Het |
| Bag5 |
T |
C |
12: 111,676,722 (GRCm39) |
K367R |
probably benign |
Het |
| Cdc25b |
T |
C |
2: 131,036,080 (GRCm39) |
Y410H |
probably damaging |
Het |
| Cgref1 |
G |
T |
5: 31,102,800 (GRCm39) |
P7Q |
probably damaging |
Het |
| Cnot6 |
T |
C |
11: 49,576,159 (GRCm39) |
I136V |
probably benign |
Het |
| Comp |
A |
G |
8: 70,832,059 (GRCm39) |
D500G |
possibly damaging |
Het |
| Dnah7b |
T |
C |
1: 46,395,714 (GRCm39) |
L3872P |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,175,336 (GRCm39) |
L91Q |
possibly damaging |
Het |
| Fancd2 |
T |
C |
6: 113,525,364 (GRCm39) |
V280A |
possibly damaging |
Het |
| Fat4 |
T |
A |
3: 39,012,597 (GRCm39) |
Y2297* |
probably null |
Het |
| Fem1c |
A |
T |
18: 46,638,868 (GRCm39) |
M378K |
probably damaging |
Het |
| Gata6 |
A |
G |
18: 11,054,082 (GRCm39) |
T4A |
probably damaging |
Het |
| Gatb |
G |
C |
3: 85,544,297 (GRCm39) |
V422L |
probably damaging |
Het |
| Gfpt1 |
T |
A |
6: 87,059,508 (GRCm39) |
D510E |
probably benign |
Het |
| Gria4 |
A |
T |
9: 4,502,436 (GRCm39) |
Y366N |
probably benign |
Het |
| Gucy1b1 |
T |
C |
3: 81,942,666 (GRCm39) |
H492R |
probably damaging |
Het |
| H2bc6 |
A |
G |
13: 23,769,776 (GRCm39) |
I55T |
possibly damaging |
Het |
| Hecw2 |
T |
C |
1: 53,953,031 (GRCm39) |
|
probably null |
Het |
| Hnrnph1 |
A |
C |
11: 50,270,383 (GRCm39) |
E62D |
probably benign |
Het |
| Itga2 |
A |
G |
13: 115,012,095 (GRCm39) |
V274A |
probably damaging |
Het |
| Kdm5d |
T |
A |
Y: 941,488 (GRCm39) |
W1230R |
probably damaging |
Het |
| Lctl |
A |
T |
9: 64,038,861 (GRCm39) |
M317L |
probably benign |
Het |
| Lrp6 |
T |
C |
6: 134,463,471 (GRCm39) |
D570G |
probably damaging |
Het |
| Lrrc9 |
G |
T |
12: 72,496,490 (GRCm39) |
M39I |
probably damaging |
Het |
| Ltbp2 |
A |
T |
12: 84,877,419 (GRCm39) |
I402N |
probably damaging |
Het |
| Mst1 |
G |
A |
9: 107,959,748 (GRCm39) |
G297D |
probably damaging |
Het |
| Muc6 |
G |
C |
7: 141,217,659 (GRCm39) |
P2338R |
probably damaging |
Het |
| Nbr1 |
G |
A |
11: 101,457,026 (GRCm39) |
R163Q |
probably damaging |
Het |
| Nlrp4f |
A |
G |
13: 65,342,143 (GRCm39) |
F501L |
probably damaging |
Het |
| Nup133 |
A |
C |
8: 124,649,153 (GRCm39) |
I563S |
probably benign |
Het |
| Oacyl |
T |
G |
18: 65,858,369 (GRCm39) |
|
probably null |
Het |
| Oog4 |
CAA |
CA |
4: 143,164,022 (GRCm39) |
|
probably null |
Het |
| Plxna2 |
C |
T |
1: 194,326,203 (GRCm39) |
R46C |
possibly damaging |
Het |
| Ppp1r26 |
T |
A |
2: 28,340,749 (GRCm39) |
D126E |
probably damaging |
Het |
| Prl6a1 |
A |
T |
13: 27,500,282 (GRCm39) |
R84S |
possibly damaging |
Het |
| Ptprz1 |
C |
T |
6: 23,001,746 (GRCm39) |
Q1279* |
probably null |
Het |
| Ptx4 |
C |
T |
17: 25,344,166 (GRCm39) |
T472I |
possibly damaging |
Het |
| Rabgap1l |
A |
G |
1: 160,528,358 (GRCm39) |
V416A |
probably damaging |
Het |
| Rbfox2 |
A |
T |
15: 76,989,834 (GRCm39) |
D231E |
probably benign |
Het |
| Reln |
A |
T |
5: 22,432,636 (GRCm39) |
F121L |
possibly damaging |
Het |
| Scaf4 |
A |
T |
16: 90,026,964 (GRCm39) |
M951K |
unknown |
Het |
| Sdf4 |
T |
C |
4: 156,080,977 (GRCm39) |
|
probably null |
Het |
| Sec16a |
T |
C |
2: 26,331,863 (GRCm39) |
T51A |
probably damaging |
Het |
| Sema3a |
A |
G |
5: 13,607,008 (GRCm39) |
N281S |
probably damaging |
Het |
| Snai2 |
G |
A |
16: 14,524,754 (GRCm39) |
V87I |
possibly damaging |
Het |
| Spata31f1e |
T |
C |
4: 42,791,357 (GRCm39) |
E925G |
probably damaging |
Het |
| Synj2 |
T |
A |
17: 6,040,514 (GRCm39) |
S197T |
possibly damaging |
Het |
| Syt6 |
A |
T |
3: 103,495,018 (GRCm39) |
M328L |
probably benign |
Het |
| Tdrd12 |
A |
G |
7: 35,177,516 (GRCm39) |
V946A |
unknown |
Het |
| Trat1 |
A |
T |
16: 48,574,657 (GRCm39) |
|
probably null |
Het |
| Vmn1r75 |
T |
A |
7: 11,614,997 (GRCm39) |
I243K |
possibly damaging |
Het |
| Vmn2r83 |
G |
A |
10: 79,327,771 (GRCm39) |
C793Y |
probably damaging |
Het |
| Wnt9a |
G |
A |
11: 59,219,583 (GRCm39) |
G203D |
probably damaging |
Het |
| Xrn2 |
T |
C |
2: 146,871,676 (GRCm39) |
I366T |
probably damaging |
Het |
| Zfp280d |
A |
G |
9: 72,269,224 (GRCm39) |
D787G |
possibly damaging |
Het |
| Zfp706 |
T |
C |
15: 37,002,169 (GRCm39) |
T53A |
probably damaging |
Het |
|
| Other mutations in Rfx7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00233:Rfx7
|
APN |
9 |
72,514,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00323:Rfx7
|
APN |
9 |
72,524,702 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL00920:Rfx7
|
APN |
9 |
72,500,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01317:Rfx7
|
APN |
9 |
72,525,818 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01405:Rfx7
|
APN |
9 |
72,517,626 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01585:Rfx7
|
APN |
9 |
72,524,343 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL02118:Rfx7
|
APN |
9 |
72,524,486 (GRCm39) |
missense |
probably benign |
|
|
IGL02205:Rfx7
|
APN |
9 |
72,514,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02608:Rfx7
|
APN |
9 |
72,524,576 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02629:Rfx7
|
APN |
9 |
72,526,541 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02963:Rfx7
|
APN |
9 |
72,524,898 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03026:Rfx7
|
APN |
9 |
72,526,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03033:Rfx7
|
APN |
9 |
72,440,271 (GRCm39) |
splice site |
probably benign |
|
|
IGL03212:Rfx7
|
APN |
9 |
72,526,443 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL03221:Rfx7
|
APN |
9 |
72,526,088 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4431001:Rfx7
|
UTSW |
9 |
72,525,253 (GRCm39) |
missense |
probably benign |
|
|
R0365:Rfx7
|
UTSW |
9 |
72,527,118 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0449:Rfx7
|
UTSW |
9 |
72,517,586 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0464:Rfx7
|
UTSW |
9 |
72,525,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0746:Rfx7
|
UTSW |
9 |
72,526,388 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1195:Rfx7
|
UTSW |
9 |
72,525,228 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1195:Rfx7
|
UTSW |
9 |
72,525,228 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1195:Rfx7
|
UTSW |
9 |
72,525,228 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1263:Rfx7
|
UTSW |
9 |
72,484,329 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1277:Rfx7
|
UTSW |
9 |
72,500,594 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1330:Rfx7
|
UTSW |
9 |
72,524,547 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1371:Rfx7
|
UTSW |
9 |
72,526,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1605:Rfx7
|
UTSW |
9 |
72,519,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1802:Rfx7
|
UTSW |
9 |
72,526,919 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1903:Rfx7
|
UTSW |
9 |
72,524,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2018:Rfx7
|
UTSW |
9 |
72,524,967 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2050:Rfx7
|
UTSW |
9 |
72,524,748 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2190:Rfx7
|
UTSW |
9 |
72,525,201 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2208:Rfx7
|
UTSW |
9 |
72,525,246 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2921:Rfx7
|
UTSW |
9 |
72,524,946 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R3978:Rfx7
|
UTSW |
9 |
72,522,393 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4231:Rfx7
|
UTSW |
9 |
72,526,672 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4243:Rfx7
|
UTSW |
9 |
72,499,051 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4244:Rfx7
|
UTSW |
9 |
72,499,051 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4245:Rfx7
|
UTSW |
9 |
72,499,051 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4261:Rfx7
|
UTSW |
9 |
72,523,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4844:Rfx7
|
UTSW |
9 |
72,500,524 (GRCm39) |
nonsense |
probably null |
|
|
R4902:Rfx7
|
UTSW |
9 |
72,524,573 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5432:Rfx7
|
UTSW |
9 |
72,500,584 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5627:Rfx7
|
UTSW |
9 |
72,440,066 (GRCm39) |
start gained |
probably benign |
|
|
R5900:Rfx7
|
UTSW |
9 |
72,524,538 (GRCm39) |
missense |
probably benign |
|
|
R5991:Rfx7
|
UTSW |
9 |
72,526,820 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6273:Rfx7
|
UTSW |
9 |
72,524,279 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6306:Rfx7
|
UTSW |
9 |
72,524,237 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6324:Rfx7
|
UTSW |
9 |
72,525,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6437:Rfx7
|
UTSW |
9 |
72,525,768 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6860:Rfx7
|
UTSW |
9 |
72,524,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6998:Rfx7
|
UTSW |
9 |
72,525,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7255:Rfx7
|
UTSW |
9 |
72,527,110 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7336:Rfx7
|
UTSW |
9 |
72,500,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7857:Rfx7
|
UTSW |
9 |
72,500,605 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7946:Rfx7
|
UTSW |
9 |
72,524,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8345:Rfx7
|
UTSW |
9 |
72,524,973 (GRCm39) |
missense |
probably benign |
|
|
R8354:Rfx7
|
UTSW |
9 |
72,526,731 (GRCm39) |
missense |
probably benign |
|
|
R8553:Rfx7
|
UTSW |
9 |
72,519,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8726:Rfx7
|
UTSW |
9 |
72,500,505 (GRCm39) |
splice site |
probably benign |
|
|
R8766:Rfx7
|
UTSW |
9 |
72,524,021 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8788:Rfx7
|
UTSW |
9 |
72,524,795 (GRCm39) |
missense |
probably benign |
|
|
R8805:Rfx7
|
UTSW |
9 |
72,524,316 (GRCm39) |
missense |
probably benign |
|
|
R8897:Rfx7
|
UTSW |
9 |
72,525,123 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9198:Rfx7
|
UTSW |
9 |
72,524,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9497:Rfx7
|
UTSW |
9 |
72,526,423 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9589:Rfx7
|
UTSW |
9 |
72,525,122 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
Z1177:Rfx7
|
UTSW |
9 |
72,522,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATGTACTGTTGTACCCTAGAC -3'
(R):5'- AGGCGCATTACTGTTACTGGG -3'
Sequencing Primer
(F):5'- ACCTTTTTGCAGGTCCAG -3'
(R):5'- GGGATATTGTTGTCATTTTCACCAC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation